Sequencing of the human genome will generate an avalanche of genetic information to be linked with information about microbial, chemical, and physical exposures; nutrition, metabolism, lifestyle behaviors, and medications. Advances in DNA sequencing technology and in the understanding of the human genome are ushering in a new era of genomic medicine, one with dramatic potential to not only benefit society through research involving human subjects, but also to cause economic or psychosocial harms to clinical subjects and their families. While in some cases such information may be beneficial to research subjects and their families, there is also potential for misinterpretation or misuse.
In today's medical environment, a health practitioner or clinical trial sponsor would (or at least should) never consider performing a medical procedure, such as a surgical or diagnostic procedure, on a patient, or putting that individual in a clinical trial, without first obtaining informed consent. This is not only important from a risk management perspective, but is basic to the proper practice of medicine.
Special concerns have arisen about the process of informed consent, particularly when the risks and benefits of research participation may not be fully known. Concerns have also arisen about how best to prevent the preliminary or premature release of research results and to protect the privacy of individuals who choose to participate in genetics research. Current guidance and protections need to be enhanced to deal with the special considerations related to genetics research.
The information most often provided in obtaining consent to participate in clinical trial includes the research procedure; the purposes, risks, and anticipated benefits; alternative procedures (where therapy is involved); and a statement offering the opportunity to ask questions and to withdraw from the research at any time. Federal regulations (45CFR46 and 10CFR745) require the disclosure of a number of issues in any informed consent document. They include such issues as potential benefits of the research, potential risks to the donor, control and ownership of donated material, long-term retention of donated material for future use, and the procedures that will be followed. In addition, there are several other disclosures that are of special importance for donors of DNA for large-scale sequencing. These include:                The meaning of privacy and confidentiality of information in the context of large-scale DNA sequencing, and how these issues will be addressed;        The lack of opportunity for the donor to later withdraw the libraries made from his/her DNA or his/her DNA sequence information from public use;        The absence of opportunity for information of clinical relevance, e.g., information regarding susceptibility to disease, etc., to be provided to the donor or her/his family;        The possibility of unforeseen risks; and        The possible extension of risk to family members of the donor or to any group or community of interest (e.g., gender, race, ethnicity) to which a donor might belong.        
Comprehension, the manner and context in which information is received, is also another important issue in dealing with informed consent. Many of the standard informed consent forms currently used have often fatal practical limitations and they may be inconsistently applied. Typically the forms are modified for each specific medical, dental or psychiatric procedure. While this is efficient, it rarely takes into account the impacts of the differing information to be conveyed, the differing manners in which it must be delivered (if read), and the differing attitudes of the patient. Each of these naturally affect the dependability of the form. In addition, as each doctor tries to alter a general form for a specific procedure, personal biases can detract from the real goal of the process. Even if each of these limitations were recognized, until the present invention, it simply would not have been practical to tailor a document not only doctor to doctor, but also from day to day, and from patient mood to patient mood. This latter aspect—that a given patient might have different needs from day to day or hour to hour—has been an aspect that, until the present invention, those skilled in the art could not readily address. Those skilled in the art, the doctors and lawyers, simply believed it was not possible to accommodate the needs of the patient to this degree. While the need for controlled consistency in this area has been openly sought by consumer protection groups, medical groups, and malpractice insurance carriers, until the present invention it was not deemed practical to attempt to utilize a technique which could be varied to suit each specific occasion.
Systems and methods that address these issues and develop guidelines and frameworks for ensuring the safe and appropriate use of genetic information are crucial to the success of large use of genetic information are described below.